Article
Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.
The EMBO journal - 1 Jan 1994
Bessler M, Mason P J, Hillmen P, Miyata T, Yamada N, Takeda J, Luzzatto L, Kinoshita T
Abstract excerpt
Paroxysmal nocturnal haemoglobinuria (PNH), an acquired clonal blood disorder, is caused by the absence of glycosyl phosphatidylinositol (GPI)-anchored surface proteins due to a defect in a specific step of GPI-anchor synthesis. The cDNA of the X-linked gene, PIG-A, which encodes a protein requir...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Northern
- Cell Line
- DNA
- Glycosylphosphatidylinositols
- Hemoglobinuria, Paroxysmal
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Phenotype
- Transcription, Genetic
- Transfection